A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13037



Internal ID15489054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70054856..70079119hg38UCSC Ensembl
Outerchr5:70049776..70080419hg38UCSC Ensembl
Innerchr5:69350683..69374946hg19UCSC Ensembl
Outerchr5:69345603..69376246hg19UCSC Ensembl
Innerchr5:69386439..69410702hg18UCSC Ensembl
Outerchr5:69381359..69412002hg18UCSC Ensembl
Innerchr5:69386439..69410702hg17UCSC Ensembl
Outerchr5:69381359..69412002hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3830644
hg1930644
hg1830644
hg1730644
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18563
Known GenesSMA4, SMN1, SMN2
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv13037
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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